[Current aspects of the problem of thesaurismoses].
The main changes occuring in the theory of thesaurismoses are presented briefly. Main groups of thesaurismoses characterized by disorders of one or another kind of metabolism are dealt with. Most frequently occuring forms of thesaurismoses are described and by their examples it is shown how new nosological entities are distinguished by the nature of metabolic disorders, by the defect of the enzyme, and by the degree of severity of the enzymatic block. The main criteria for morphological diagnosis of thesaurismoses are presented including the presence of accumulation cell, their localization in different organs, histochemical analysis of accumulation products and electron microscopic findings. Biochemical examinations are considered to be essential for diagnosis.
D002554:Cerebrosides / Q000378:metabolism; D002648:Child; D004789:Enzyme Activation; D005733:Gangliosidoses / Q000473:pathology; D006008:Glycogen Storage Disease / Q000473:pathology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000473:pathology; D008064:Lipidoses / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology*; D009083:Mucopolysaccharidoses / Q000473:pathology; D010661:Phenylketonurias / Q000473:pathology; D013106:Sphingolipidoses / Q000473:pathology
D002554:Cerebrosides
Sovremennye aspekty problemy tezaurismozov.